Test Price
2,800 AEDโ Home Collection Available
COL2A1 Gene Platyspondylic Skeletal Dysplasia, Torrance Type Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Diagnostic Confidence
99.9% Diagnostic Sensitivity via ISO 15189 & ISO 9001:2015 Accredited NGS Processing. Full gene coverage with 100x mean depth.
Premium Home Collection
VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM. No fasting required; patient must be afebrile for 24 hours prior.
Clinical Guidance & Insurance
Telephonic Post-Test Clinical Guidance by DHA-Licensed Genetic Counselors. Direct Insurance Billing Verification via WhatsApp: +971 54 548 8731.
This advanced genetic test provides definitive detection of mutations in the COL2A1 gene associated with Torrance-type platyspondylic skeletal dysplasia, using Next-Generation Sequencing (NGS) with deletion/duplication analysis, in full compliance with Dubai Health Authority and UAE federal regulations.
Test Overview & Methodology
The COL2A1 gene test definitively diagnoses Torrance-type platyspondylic skeletal dysplasia, a rare autosomal dominant disorder characterized by severe vertebral flattening and metaphyseal irregularities, using Next-Generation Sequencing with deletion/duplication analysis. Below is a head-to-head comparison against common alternative approaches.
| Feature | Our NGS Test (Platyspondylic Torrance) | Closest Alternative (Single Gene Sanger) |
|---|---|---|
| Methodology | NGS (Full Gene + CNV Analysis) | Sanger Sequencing (Targeted Exons Only) |
| Detection Rate | >99.5% for SNVs, Indels, Large Deletions/Duplications | ~85% (misses deep intronic & large CNVs) |
| Turnaround Time | 3โ4 Weeks (Comprehensive Report) | 4โ6 Weeks (Often outsourced) |
| Clinical Utility | Differentiates Torrance from other COL2A1 phenotypes (e.g., SED congenita) | May misclassify due to incomplete locus coverage |
Physician Insight & Safety Protocols
Expert Commentary
โA positive COL2A1 result confirms the molecular diagnosis of Torrance dysplasia, but must always be correlated with the patientโs full clinical and radiological phenotype. This test empowers families with definitive answers, yet careful genetic counseling is essential to discuss recurrence risks and guide management. Never interpret this result in isolation.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA License: 9294403
Important Safety & Exclusion Criteria
โ Clinical Advisory
Do not discontinue or adjust any prescribed medication, especially hormonal therapies or supplements, without consulting your treating physician. This genetic test is for diagnostic confirmation only and does not replace ongoing clinical care.
- Safety Exclusion Criteria: Active fever or infection at time of blood draw may delay collection; patients on chronic anticoagulation require additional post-phlebotomy monitoring.
- Emergency Red Flags: If the patient (<12 years) develops acute respiratory distress, severe bone pain, or spinal cord compression symptoms, seek immediate emergency medical attention โ these are not test-related but disease-associated urgencies.
- Minor Consent: As per Federal Decree-Law No. 4 of 2016 on Medical Liability, genetic testing for individuals under 18 requires explicit parental/guardian consent and mandatory genetic counseling documentation.
Patient FAQ & Clinical Guidance
1. How accurate is the COL2A1 NGS for Torrance dysplasia, and can it detect all mutations?
Our NGS assay covers 100% of the COL2A1 coding exons, flanking intronic regions, and known deep intronic variants, achieving >99.5% analytical sensitivity and specificity for point mutations, small insertions/deletions, and large copy number changes.
2. What sample types are accepted, and how should I prepare my child for blood collection at home?
We accept whole blood (3โ5 mL in EDTA tube), extracted DNA, or a single drop of blood on an FTA card โ all transported via ISO-certified cold-chain during home collection available daily 8 AMโ11 PM. No fasting is required, but the patient must be afebrile for 24 hours prior.
3. How do I receive the result, and what clinical support is offered afterwards?
A secure digital report is delivered within 3โ4 weeks, accompanied by a telephonic consultation with a DHA-licensed genetic counselor who will explain the findings, correlate them with the provided clinical history, and recommend further specialist follow-up if needed.
UAE Regulatory & Data Privacy Adherence
Comprehensive Legal Compliance
- Data Protection: All personal health data is handled in strict accordance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Health Information Security: Full compliance with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Medical Liability: Patient safety and consent procedures follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Accreditation: ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) and DHA Facility License: 1143.
Clinical & Logistical Metadata
| Test Name | COL2A1 Gene Platyspondylic Skeletal Dysplasia, Torrance Type Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card; VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection Available |
| Methodology Used | Next-Generation Sequencing (NGS) with CNV Analysis |
| ICD-10-CM Code | Q77.7 |
| LOINC Code | 81247-9 |
| DHA Facility License & Laboratory Address | DHA License: 1143 | DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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ISMS 27001:2022
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HIPAA
All reports reviewed by DHA-Certified physicians